Michael Fahey
Michael Fahey
Verified email at monash.edu
Title
Cited by
Cited by
Year
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, ...
American journal of medical genetics Part A 167 (2), 296-312, 2015
2692015
Early, accurate diagnosis and early intervention in cerebral palsy: advances in diagnosis and treatment
I Novak, C Morgan, L Adde, J Blackman, RN Boyd, ...
JAMA pediatrics 171 (9), 897-907, 2017
2432017
Mutations in TPM3 are a common cause of congenital fiber type disproportion
NF Clarke, H Kolski, DE Dye, E Lim, RLL Smith, R Patel, MC Fahey, ...
Annals of neurology 63 (3), 329-337, 2008
1412008
Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C
FA Wijburg, F Sedel, M Pineda, CJ Hendriksz, M Fahey, M Walterfang, ...
Neurology 78 (20), 1560-1567, 2012
1372012
Ascorbic acid for Charcot–Marie–Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial
J Burns, RA Ouvrier, EM Yiu, PD Joseph, AJ Kornberg, MC Fahey, ...
The Lancet Neurology 8 (6), 537-544, 2009
1322009
The neuropsychiatry of Niemann-Pick type C disease in adulthood
M Walterfang, M Fietz, M Fahey, D Sullivan, P Leane, DI Lubman, ...
The Journal of neuropsychiatry and clinical neurosciences 18 (2), 158-170, 2006
1102006
Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich ataxia
MC Fahey, PD Cremer, ST Aw, L Millist, MJ Todd, OB White, M Halmagyi, ...
Brain 131 (4), 1035-1045, 2008
1072008
Metabolic disorders and mental retardation
SG Kahler, MC Fahey
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2003
932003
White and gray matter alterations in adults with Niemann-Pick disease type C: a cross-sectional study
M Walterfang, M Fahey, P Desmond, A Wood, ML Seal, C Steward, ...
Neurology 75 (1), 49-56, 2010
812010
How is disease progress in Friedreich’s ataxia best measured? A study of four rating scales
MC Fahey, L Corben, V Collins, AJ Churchyard, MB Delatycki
Journal of Neurology, Neurosurgery & Psychiatry 78 (4), 411-413, 2007
812007
Antioxidants and other pharmacological treatments for Friedreich ataxia
M Kearney, RW Orrell, M Fahey, M Pandolfo
Cochrane Database of systematic reviews, 2012
782012
Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa–Kuroki) syndrome
SM White, EM Thompson, A Kidd, R Savarirayan, A Turner, D Amor, ...
American Journal of Medical Genetics Part A 127 (2), 118-127, 2004
712004
Australian Cerebral Palsy Child Study: protocol of a prospective population based study of motor and brain development of preschool aged children with cerebral palsy
RN Boyd, R Jordan, L Pareezer, A Moodie, C Finn, B Luther, E Arnfield, ...
BMC neurology 13 (1), 57, 2013
662013
A new dominantly inherited pure cerebellar ataxia, SCA 30
E Storey, M Bahlo, M Fahey, O Sisson, CJ Lueck, RJM Gardner
Journal of Neurology, Neurosurgery & Psychiatry 80 (4), 408-411, 2009
652009
Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria
SJ Turner, MS Hildebrand, S Block, J Damiano, M Fahey, S Reilly, ...
American journal of medical genetics Part A 161 (9), 2321-2326, 2013
622013
The relationship between motor abilities and early social development in a preschool cohort of children with cerebral palsy
K Whittingham, M Fahey, B Rawicki, R Boyd
Research in developmental disabilities 31 (6), 1346-1351, 2010
602010
Preterm hypoxic–ischemic encephalopathy
KR Gopagondanahalli, J Li, MC Fahey, RW Hunt, G Jenkin, SL Miller, ...
Frontiers in pediatrics 4, 114, 2016
562016
The genetic basis of cerebral palsy
MC Fahey, AH Maclennan, D Kretzschmar, J Gecz, MC Kruer
Developmental Medicine & Child Neurology 59 (5), 462-469, 2017
542017
Concise review: Stem cell interventions for people with cerebral palsy: Systematic review with meta‐analysis
I Novak, K Walker, RW Hunt, EM Wallace, M Fahey, N Badawi
Stem cells translational medicine 5 (8), 1014-1025, 2016
462016
Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations
JE Wraith, F Sedel, M Pineda, FA Wijburg, CJ Hendriksz, M Fahey, ...
Journal of inherited metabolic disease 37 (1), 93-101, 2014
432014
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Articles 1–20